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PTEN somatic mutations contribute to spectrum of cerebral overgrowth.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. Koboldt DC, et al. Among authors: leonard j. Brain. 2021 Nov 29;144(10):2971-2978. doi: 10.1093/brain/awab173. Brain. 2021. PMID: 34048549 Free PMC article.
SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature.
Mangum R, Varga E, Boué DR, Capper D, Benesch M, Leonard J, Osorio DS, Pierson CR, Zumberge N, Sahm F, Schrimpf D, Pfister SM, Finlay JL. Mangum R, et al. Among authors: leonard j. Childs Nerv Syst. 2016 Dec;32(12):2439-2446. doi: 10.1007/s00381-016-3185-0. Epub 2016 Jul 21. Childs Nerv Syst. 2016. PMID: 27444290 Review.
Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma.
Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Miller KE, et al. Among authors: leonard j. Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2):a002618. doi: 10.1101/mcs.a002618. Print 2018 Apr. Cold Spring Harb Mol Case Stud. 2018. PMID: 29434027 Free PMC article.
Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.
Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC. Darby CA, et al. Among authors: leonard j. iScience. 2019 Aug 30;18:1-10. doi: 10.1016/j.isci.2019.05.037. Epub 2019 May 29. iScience. 2019. PMID: 31271967 Free PMC article.
GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors.
Richardson TE, Tang K, Vasudevaraja V, Serrano J, William CM, Mirchia K, Pierson CR, Leonard JR, AbdelBaki MS, Schieffer KM, Cottrell CE, Tovar-Spinoza Z, Comito MA, Boué DR, Jour G, Snuderl M. Richardson TE, et al. Among authors: leonard jr. J Neuropathol Exp Neurol. 2019 Dec 1;78(12):1089-1099. doi: 10.1093/jnen/nlz093. J Neuropathol Exp Neurol. 2019. PMID: 31626289
2,999 results